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Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34. [electronic resource] by
- van Slegtenhorst, M
- Janssen, B
- Nellist, M
- Ramlakhan, S
- Hermans, C
- Hesseling, A
- van den Ouweland, A
- Kwiatkowski, D
- Eussen, B
- Sampson, J
Producer: 19951030
In:
European journal of human genetics : EJHG vol. 3
Availability: No items available.
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8.
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Dynamic molecular combing: stretching the whole human genome for high-resolution studies. [electronic resource] by
- Michalet, X
- Ekong, R
- Fougerousse, F
- Rousseaux, S
- Schurra, C
- Hornigold, N
- van Slegtenhorst, M
- Wolfe, J
- Povey, S
- Beckmann, J S
- Bensimon, A
Producer: 19970922
In:
Science (New York, N.Y.) vol. 277
Availability: No items available.
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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. [electronic resource] by
- van Slegtenhorst, M
- Nellist, M
- Nagelkerken, B
- Cheadle, J
- Snell, R
- van den Ouweland, A
- Reuser, A
- Sampson, J
- Halley, D
- van der Sluijs, P
Producer: 19980619
In:
Human molecular genetics vol. 7
Availability: No items available.
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11.
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Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation. [electronic resource] by
- van Slegtenhorst, M
- Verhoef, S
- Tempelaars, A
- Bakker, L
- Wang, Q
- Wessels, M
- Bakker, R
- Nellist, M
- Lindhout, D
- Halley, D
- van den Ouweland, A
Producer: 19990610
In:
Journal of medical genetics vol. 36
Availability: No items available.
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Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation. [electronic resource] by
- Dayanandan, R
- Van Slegtenhorst, M
- Mack, T G
- Ko, L
- Yen, S H
- Leroy, K
- Brion, J P
- Anderton, B H
- Hutton, M
- Lovestone, S
Producer: 19990420
In:
FEBS letters vol. 446
Availability: No items available.
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A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. [electronic resource] by
- van Slegtenhorst, M A
- Bassi, M T
- Borsani, G
- Wapenaar, M C
- Ferrero, G B
- de Conciliis, L
- Rugarli, E I
- Grillo, A
- Franco, B
- Zoghbi, H Y
- Ballabio, A
Producer: 19940927
In:
Human molecular genetics vol. 3
Availability: No items available.
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17.
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Sites of phosphorylation in tau and factors affecting their regulation. [electronic resource] by
- Anderton, B H
- Betts, J
- Blackstock, W P
- Brion, J P
- Chapman, S
- Connell, J
- Dayanandan, R
- Gallo, J M
- Gibb, G
- Hanger, D P
- Hutton, M
- Kardalinou, E
- Leroy, K
- Lovestone, S
- Mack, T
- Reynolds, C H
- Van Slegtenhorst, M
Producer: 20011214
In:
Biochemical Society symposium no. 67
Availability: No items available.
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18.
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Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein. [electronic resource] by
- Lewis, J
- McGowan, E
- Rockwood, J
- Melrose, H
- Nacharaju, P
- Van Slegtenhorst, M
- Gwinn-Hardy, K
- Paul Murphy, M
- Baker, M
- Yu, X
- Duff, K
- Hardy, J
- Corral, A
- Lin, W L
- Yen, S H
- Dickson, D W
- Davies, P
- Hutton, M
Producer: 20000828
In:
Nature genetics vol. 25
Availability: No items available.
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19.
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Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy. [electronic resource] by
- Otten, E
- Lekanne Dit Deprez, R H
- Weiss, M M
- van Slegtenhorst, M
- Joosten, M
- van der Smagt, J J
- de Jonge, N
- Kerstjens-Frederikse, W S
- Roofthooft, M T R
- Balk, A H M M
- van den Berg, M P
- Ruiter, J S
- van Tintelen, J P
Producer: 20110714
In:
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation vol. 18
Availability: No items available.
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20.
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A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. [electronic resource] by
- van der Linde, I H M
- Hiemstra, Y L
- Bökenkamp, R
- van Mil, A M
- Breuning, M H
- Ruivenkamp, C
- Ten Broeke, S W
- Veldkamp, R F
- van Waning, J I
- van Slegtenhorst, M A
- van Spaendonck-Zwarts, K Y
- Lekanne Deprez, R H
- Herkert, J C
- Boven, L
- van der Zwaag, P A
- Jongbloed, J D H
- Bootsma, M
- Barge-Schaapveld, D Q C M
Publication details: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation Dec 2017
In:
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation vol. 25
Availability: No items available.
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